Results 101 to 110 of about 161,013 (302)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Mitochondria transplantation transiently rescues cerebellar neurodegeneration improving mitochondrial function and reducing mitophagy in mice

Nature Communications
Cerebellar ataxia is the primary manifestation of cerebellar degenerative diseases, and mitochondrial dysfunction in Purkinje cells (PCs) plays a critical role in disease progression.
Shu-Jiao Li, Qian-Wen Zheng, Jie Zheng, Jin-Bao Zhang, Hui Liu, Jing-Jing Tie, Kun-Long Zhang, Fei-Fei Wu, Xiao-Dong Li, Shuai Zhang, Xin Sun, Yan-Ling Yang, Ya-Yun Wang   +12 more
doaj   +1 more source

Dissociation of structural and functional integrities of the motor system in amyotrophic lateral sclerosis and behavioral-variant frontotemporal dementia [PDF]

, 2016
Background and Purpose: This study investigated the structural and functional changes in the motor system in amyotrophic lateral sclerosis (ALS; n=25) and behavioral-variant fronto-temporal dementia (bvFTD; n=17) relative to healthy controls (n=37 ...
Bae, Jong Seok, Burrell, James, Ferguson, Michele, Hodges, John R., Hornberger, Michael, Kiernan, Matthew C., Mioshi, Eneida, Simon, Neil, Tan, Rachel, Vucic, Steve   +9 more
core   +2 more sources

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Maml1 acts cooperatively with Gli proteins to regulate Sonic hedgheog signaling pathway [PDF]

, 2017
Sonic hedgehog (Shh) signaling is essential for proliferation of cerebellar granule cell progenitors (GCPs) and its misregulation is linked to various disorders, including cerebellar cancer medulloblastoma.
BELLAVIA, Diana, BUFALIERI, FRANCESCA, CHECQUOLO, Saula, DI MARCOTULLIO, LUCIA, FELLI, MARIA PIA, LAUER, DIETER MATTHIAS, NARDOZZA, FRANCESCA, PALERMO, ROCCO, PELULLO, MARIA, QUARANTA, ROBERTA, SCREPANTI, Isabella, TALORA, Claudio, VACCA, Alessandra, ZEMA, SABRINA   +13 more
core   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Comorbidities of patients in tiotropium clinical trials : comparison with observational studies of patients with chronic obstructive pulmonary disease [PDF]

, 2015
Acknowledgments The authors are fully responsible for all content and editorial decisions made, were involved at all stages of manuscript development, and have approved the final version for publication.
Celli, Bartolome, Metzdorf, Norbert, Miravitlles, Marc, Price, David, Rabe, Klaus F, Schmidt, Hendrik   +5 more
core   +1 more source

Brain susceptibility imaging provides valuable in vivo insights into cerebellar diseases, but biological interpretations remain elusive. [PDF]

Brain Commun, 2022
Harding IH, Ward PGD.
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Assessing the link between cerebellar volume and cognitive function in Alzheimer’s disease: a pilot study

Scientific Reports
The cerebellum, long recognized for its role in motor functions, has become increasingly acknowledged for its involvement in a broader spectrum of cognitive functions.
Deborah Van Rossem, Gert-Jan Allemeersch, Nuno Barros, Joke Temmerman, Marijke Desmet, Ilka Ringoot, Annemie Ribbens, Veronique Michiels, Johan De Mey, Chris Baeken, Sebastiaan Engelborghs, Sara De Witte   +11 more
doaj   +1 more source